Article
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
Orphanet journal of rare diseases - 13 May 2015
Mizutari Kunio, Mutai Hideki, Namba Kazunori, Miyanaga Yuko, Nakano Atsuko, Arimoto Yukiko, Masuda Sawako, Morimoto Noriko, Sakamoto Hirokazu, Kaga Kimitaka, Matsunaga Tatsuo
Abstract excerpt
BACKGROUND: Mutations in CDH23 are responsible for Usher syndrome 1D and recessive non-syndromic hearing loss. In this study, we revealed the prevalence of CDH23 mutations among patients with specific clinical characteristics. METHODS: After excluding patients with GJB2 mutations and mitochondrial m.1555A > G and m.3243A > G mutations, subjects for CDH23 mutation analysis were selected according to the following...
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